Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.800 GeneticVariation disease BEFREE Having a high probability for MSI, she was found to be heterozygous for a germline point mutation in MSH2 gene, where a pathologic variant, c.1165C > T (p.Arg389*), determined by sequencing confirmed Muir-Torre syndrome (MTS). 29933315 2019
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.800 GeneticVariation disease BEFREE Both Lynch Syndrome and Muir-Torre Syndrome have been recognized due to germline mutations in mismatch repair genes MLH1, MSH2 and MSH6. 26143115 2016
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.800 GeneticVariation disease BEFREE The diagnosis of Muir-Torre syndrome was confirmed by molecular genetic investigation that revealed an identical germline mutation in MSH2 gene in several family members, some of whom had colorectal tumors. 26779764 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.800 GermlineCausalMutation disease ORPHANET Screening for germline mismatch repair mutations following diagnosis of sebaceous neoplasm. 25006859 2014
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.800 GermlineCausalMutation disease ORPHANET Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome. 25197397 2014
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.800 Biomarker disease BEFREE Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome. 25197397 2014
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.800 Biomarker disease GENOMICS_ENGLAND Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816 2014
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.800 GeneticVariation disease BEFREE All 10 sporadic periocular sebaceous carcinomas maintained strong staining of the 4 mismatch repair genes, while tumor from the patient with Muir-Torre syndrome showed loss of staining for the mismatch repair genes MSH2 and MSH6. 24321472 2014
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.800 GeneticVariation disease CLINVAR Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816 2014
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.800 GermlineCausalMutation disease ORPHANET Screening for germline mismatch repair mutations following diagnosis of sebaceous neoplasm. 25006859 2014
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.800 Biomarker disease GENOMICS_ENGLAND Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816 2014
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.800 GeneticVariation disease BEFREE In this study, we report a 74-year-old man with known Muir-Torre syndrome with confirmed MSH2 germline mutation, diagnosed with pleomorphic liposarcoma of the right buttock in a previous radiation field. 23299928 2013
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.800 GeneticVariation disease BEFREE Most examples of hereditary non-polyposis cancer syndrome (Lynch syndrome), including the Muir-Torre syndrome, are associated with microsatellite instability (MSI) and germline mutations in mismatch repair genes-most commonly MLH1 or MSH2. 23672746 2013
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.800 GeneticVariation disease BEFREE Most examples of hereditary non-polyposis cancer syndrome (Lynch syndrome), including the Muir-Torre syndrome, are associated with microsatellite instability (MSI) and germline mutations in mismatch repair genes-most commonly MLH1 or MSH2. 23672746 2013
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.800 GeneticVariation disease CLINVAR Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis. 23403630 2013
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.800 GeneticVariation disease CLINVAR Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. 22949387 2013
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.800 GeneticVariation disease CLINVAR Functional characterization of MLH1 missense variants identified in Lynch syndrome patients. 22753075 2012
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.800 GeneticVariation disease BEFREE Muir-Torre syndrome (MTS) is an autosomal dominant genodermatosis caused by mutations in the DNA mismatch repair genes MLH1 and MSH2. 21550136 2011
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.800 GeneticVariation disease BEFREE Muir-Torre syndrome (MTS) is an autosomal dominant genodermatosis caused by mutations in the DNA mismatch repair genes MLH1 and MSH2. 21550136 2011
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.800 GeneticVariation disease CLINVAR Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies. 21404117 2011
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.800 GeneticVariation disease CLINVAR Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. 21120944 2011
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.800 GeneticVariation disease CLINVAR Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair. 20533529 2010
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.800 GeneticVariation disease BEFREE Muir-Torre syndrome is usually inherited in an autosomal dominant fashion and associated with mutations in the mismatch repair genes, predominantly in MLH1 and MSH2 genes. 19998059 2010
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.800 GeneticVariation disease BEFREE Muir-Torre Syndrome (MTS) is a phenotypic variant of HNPCC traditionally associated with mutations in the mismatch repair genes MLH1 and MSH2. 18236172 2008
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.800 GeneticVariation disease LHGDN Families who carried the c.942+3A>T MSH2 gene mutation had a higher frequency of Muir-Torre syndrome than families who carried other mutations in the MSH2 gene (75% vs 25%; P = .026). 18270343 2008